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GTR Home > Conditions/Phenotypes > X-linked Opitz G/BBB syndrome

X-linked Opitz G/BBB syndrome

Synonyms
OPITZ BBBG SYNDROME, TYPE I; OPITZ SYNDROME, X-LINKED; OPITZ-G SYNDROME, TYPE I; Opitz-Frias syndrome

Summary

Excerpted from the GeneReview: MID1-Related Opitz G/BBB Syndrome
MID1-related Opitz G/BBB syndrome (MID1-OS) is characterized by facial anomalies (hypertelorism, prominent forehead, widow's peak, broad nasal bridge, anteverted nares), genitourinary abnormalities (hypospadias, cryptorchidism, and hypoplastic/bifid scrotum), and laryngotracheoesophageal defects. Developmental delay and intellectual disability are observed in about 30% of affected males. Cleft lip and/or palate are present in approximately half of affected males. Other malformations (present in <50% of affected males) include congenital heart defects, imperforate or ectopic anus, and midline brain defects (Dandy-Walker malformation and agenesis or hypoplasia of the corpus callosum and/or cerebellar vermis). Wide clinical variability occurs even among members of the same family. Female heterozygotes usually manifest hypertelorism only.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Germana Meroni
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Available tests

49 tests are in the database for this condition.

Clinical tests (49 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBBG1, FXY, GBBB, GBBB1, MIDIN, OGS1, OS, OSX, RNF59, TRIM18, XPRF, ZNFXY, MID1
    Summary: midline 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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